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. 2014 Jun 24;35(8):927–935. doi: 10.1002/humu.22594

Figure 2.

Figure 2

Excerpt from UniProtKB/Swiss-Prot entry Q5HYA8 representing human Meckelin (TMEM67). The “Sequence annotation (Features)” section describes the sequence and sequence variants at the single residue level. Note the presence of three types of variants: a neutral polymorphism at position 261, disease variants associated with ciliopathies MKS3, COACHS, and NPHP11, and VUS at positions 245 and 296. Note that disease-linked variant p.Asn242Thr affects a predicted N-glycosylation site (see subsection “Amino acid modifications”). Disease-linked variant p.Gln376Pro perturbs protein subcellular location.